Search Results - Hélène Maurey

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  1. 1
    Recurrent mutations in the <i>CDKL5</i> gene: Genotype–phenotype relationships

    Recurrent mutations in the <i>CDKL5</i> gene: Genotype–phenotype relationships by Nadia Bahi‐Buisson, Nathalie Villeneuve, Emilie Caietta, Aurélia Jacquette, Hélène Maurey, Gert Matthijs, Hilde Van Esch, Andrée Delahaye‐Duriez, Anne Moncla, Mathieu Milh, Flore Zufferey, Bertrand Diebold, Thierry Bienvenu

    Published 2012
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  2. 2
    Loss of function mutations in EPHB4 are responsible for vein of Galen aneurysmal malformation

    Loss of function mutations in EPHB4 are responsible for vein of Galen aneurysmal malformation by Alexandre Vivanti, Augustin Ozanne, Cynthia Grondin, Guillaume Saliou, Loïc Quevarec, Hélène Maurey, Patrick Aubourg, Alexandra Benachi, Marta Gut, Marta Gut, Jéléna Martinovic, Marie Victoire Sénat, Marcel Tawk, Judith Melki

    Published 2018
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  3. 3
    Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C

    Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C by Bénédicte Héron, Vassili Valayannopoulos, Julien Baruteau, B. Chabrol, Hélène Ogier, Philippe Latour, Dries Dobbelaere, Didier Eyer, F. Labarthe, Hélène Maurey, Jean‐Marie Cuisset, Thierry de Villemeur, Frédéric Sedel, Marie T. Vanier

    Published 2012
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  4. 4
    A novel homozygous KCNQ3 loss‐of‐function variant causes non‐syndromic intellectual disability and neonatal‐onset pharmacodependent epilepsy

    A novel homozygous KCNQ3 loss‐of‐function variant causes non‐syndromic intellectual disability and neonatal‐onset pharmacodependent epilepsy by Anna Lauritano, Sébastien Moutton, Elena Longobardi, Frédéric Tran Mau‐Them, Giusy Laudati, Piera Nappi, Maria Virginia Soldovieri, Paolo Ambrosino, Mauro Cataldi, Thibaud Jouan, Daphné Lehalle, Hélène Maurey, Christophe Philippe, Francesco Miceli, Antonio Vitobello, Maurizio Taglialatela

    Published 2019
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  5. 5
    A mutation in the gene coding for the sialic acid transporter SLC35A1 is required for platelet life span but not proplatelet formation

    A mutation in the gene coding for the sialic acid transporter SLC35A1 is required for platelet life span but not proplatelet formation by Alexandre Kauskot, Tiffany Pascreau, Frédéric Adam, Arnaud Bruneel, Christelle Repérant, Marc-Damien Lourenco-Rodrigues, Jean‐Philippe Rosa, Rachel Petermann, Hélène Maurey, Claire Auditeau, Dominique Lasne, Cécile V. Denis, Marijke Bryckaert, Pascale de Lonlay, Cécile Lavenu‐Bombled, Judith Melki, Delphine Borgel

    Published 2018
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  6. 6
    Neurological outcomes and disability predictors in paediatric herpes simplex virus encephalitis: a multicentre cohort from French tertiary hospitals

    Neurological outcomes and disability predictors in paediatric herpes simplex virus encephalitis: a multicentre cohort from French tertiary hospitals by Caroline Rey, Laetitia Giorgi, Hélène Maurey, Anne‐Lise Poulat, D. Amsallem, Anne Lépine, Stéphane Auvin, Renaldo Florence, Juliette Ropars, Emmanuel Cheuret, Sarah Baer, J.-M. Pinard, Anne Rolland, Pierre-Louis Léger, Sylvie Nguyen The Tich, Pierre Castelnau, Pierre Meyer, Sylvain Renolleau, Diana Rodriguez, Frédéric Villega, Kumaran Deiva

    Published 2025
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  7. 7
    Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females

    Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females by Christel Depienne, Oriane Trouillard, Delphine Bouteiller, Isabelle Gourfinkel‐An, Karine Poirier, François Rivier, Patrick Berquin, Rima Nabbout, Denys Chaigne, Dominique Steschenko, Agnès Gautier, Dorota Hoffman‐Zacharska, Annie Lannuzel, Marilyn Lackmy-Port-Lis, Hélène Maurey, A. Dusser, Marie Bru, Brigitte Gilbert‐Dussardier, Agathe Roubertie, Anna Kaminśka, Sandra Whalen, Cyril Mignot, Stéphanie Baulac, Gaëtan Lesca, Alexis Arzimanoglou, Eric Leguern

    Published 2010
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  8. 8
    Disease Course and Treatment Responses in Children With Relapsing Myelin Oligodendrocyte Glycoprotein Antibody–Associated Disease

    Disease Course and Treatment Responses in Children With Relapsing Myelin Oligodendrocyte Glycoprotein Antibody–Associated Disease by Yael Hacohen, Yu Yi M. Wong, Christian Lechner, Maciej Juryńczyk, Sukhvir Wright, Bahadır Konuşkan, Judith Kalser, Anne Lise Poulat, Hélène Maurey, Esther Ganelin‐Cohen, Evangeline Wassmer, Chery Hemingway, Rob Forsyth, E. Hennes, Maria Isabel Leite, Olga Ciccarelli, Banu Anlar, Rogier Hintzen, Romain Marignier, Jacqueline Palace, Matthias Baumann, Kevin Rostásy, Rinze F. Neuteboom, Kumaran Deiva, Ming Lim

    Published 2018
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  9. 9
    Clinical Features and Risk of Relapse in Children and Adults with Myelin Oligodendrocyte Glycoprotein Antibody–Associated Disease

    Clinical Features and Risk of Relapse in Children and Adults with Myelin Oligodendrocyte Glycoprotein Antibody–Associated Disease by Álvaro Cobo‐Calvo, Anne Ruiz, Fabien Rollot, Georgina Arrambide, Romain Deschamps, Élisabeth Maillart, Caroline Papeix, Bertrand Audoin, Anne Lépine, Hélène Maurey, Hélène Zephir, Damien Biotti, Jonathan Ciron, Françoise Durand‐Dubief, Nicolas Collongues, Xavier Ayrignac, Pierre Labauge, Pierre Meyer, Éric Thouvenot, Bertrand Bourre, Alexis Montcuquet, Mikaël Cohen, Philippe Horello, Mar Tintoré, de Sèze, Sandra Vukusic, Kumaran Deiva, Romain Marignier

    Published 2020
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  10. 10
    Autosomal recessive primary microcephaly due to <i>ASPM</i> mutations: An update

    Autosomal recessive primary microcephaly due to <i>ASPM</i> mutations: An update by Pascaline Létard, Séverine Drunat, Yoann Vial, Sarah Duerinckx, Anais Ernault, Daniel Amram, Stéphanie Arpin, Marta Bértoli, Tiffany Busa, Berten Ceulemans, Julie Désir, Martine Doco‐Fenzy, Siham Chafai Elalaoui, Koenraad Devriendt, Laurence Faivre, Christine Francannet, David Geneviève, Marion Gérard, Cyril Gitiaux, Sophie Julia, Sébastien Lebon, Toni Kasole Lubala, Michèle Mathieu‐Dramard, Hélène Maurey, Julia Métreau, Sanaa Nasserereddine, Mathilde Nizon, Geneviève Pierquin, Nathalie Pouvreau, Clothilde Rivier-Ringenbach, Massimiliano Rossi, Élise Schaefer, Abdelaziz Sefiani, Sabine Sigaudy, Yves Sznajer, Yusuf Tunca, Sophie Guilmin‐Crépon, Corinne Alberti, Monique Elmaleh, Brigitte Benzacken, Bernd Wollnick, C. Geoffrey Woods, Anita Rauch, Marc Abramowicz, Vincent El Ghouzzi, Pierre Gressèns, Alain Verloès, Sandrine Passemard

    Published 2017
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  11. 11
    <i>KCNT1</i>-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum

    <i>KCNT1</i>-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum by Claudia Bonardi, Henrike Heyne, Martina Fiannacca, Mark P. Fitzgerald, Elena Gardella, Boudewijn Gunning, Kern Olofsson, Gaëtan Lesca, Nienke E. Verbeek, Hannah Stamberger, Pasquale Striano, Federico Zara, Maria Margherita Mancardi, Caroline Nava, Steffen Syrbe, Salvatore Buono, Stéphanie Baulac, Antonietta Coppola, Sarah Weckhuysen, An‐Sofie Schoonjans, Berten Ceulemans, Catherine Sarret, Tobias Baumgartner, Hiltrud Muhle, Vincent des Portes, Joseph Toulouse, Marie‐Christine Nouguès, Massimiliano Rossi, Geneviève Demarquay, Dorothée Ville, Édouard Hirsch, Hélène Maurey, Marjolaine Willems, Julitta de Bellescize, Cécilia Altuzarra, Nathalie Villeneuve, Fabrice Bartoloméi, Fabienne Picard, Frauke Hornemann, David A. Koolen, Hester Y. Kroes, Chiara Reale, Christina Fenger, Wen‐Hann Tan, Leanne M. Dibbens, David Bearden, Rikke S. Møller, Guido Rubboli

    Published 2021
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  12. 12
    <i>GRIN2A</i>-related disorders: genotype and functional consequence predict phenotype

    <i>GRIN2A</i>-related disorders: genotype and functional consequence predict phenotype by Vincent Strehlow, Henrike Heyne, Danique R.M. Vlaskamp, Katie Marwick, Gabrielle Rudolf, Julitta de Bellescize, Saskia Biskup, Eva H. Brilstra, Oebele F. Brouwer, Petra M.C. Callenbach, Julia Hentschel, Édouard Hirsch, Peter C. Kind, Cyril Mignot, Konrad Platzer, P. Rump, Paul Skehel, David J. A. Wyllie, Giles E. Hardingham, Conny M.A. van Ravenswaaij‐Arts, Gaëtan Lesca, Johannes R. Lemke, Alexis Arzimanoglou, Paul B. Augustijn, Patrick Van Bogaert, Helene Bourry, Peter Burfeind, Yoyo W. Y. Chu, Brian Chung, Diane Doummar, Patrick Edery, Aviva Fattal‐Valevski, Mélanie Fradin, Marion Gérard, Christa de Geus, Boudewijn Gunning, Danielle Hasaerts, Ingo Helbig, Katherine L. Helbig, Rami Abou Jamra, Mélanie Jennesson Lyver, Jolien S. Klein Wassink‐Ruiter, David A. Koolen, Damien Lederer, Roelineke J. Lunsing, Mikaël Mathot, Hélène Maurey, Shay Menascu, Anne Michel, Ghayda Mirzaa, Diana Mitter, Hiltrud Muhle, Rikke S. Møller, Caroline Nava, Margaret O’Brien, Evelyn van Pinxteren-Nagler, Anne van Riesen, Christelle Rougeot, Damien Sanlaville, Jolanda Schieving, Steffen Syrbe, Hermine E. Veenstra‐Knol, Nienke E. Verbeek, Dorothée Ville, Yvonne J. Vos, Pascal Vrielynck, Sabrina Wagner, Sarah Weckhuysen, Marjolein H. Willemsen

    Published 2018
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